Microcephalic primordial dwarfism due to ZNF335 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH10
Microcephalic primordial dwarfism, Walsh type
Number of Symptoms 31
OrphanetNr: 329228
OMIM Id: 615095
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000426) Prominent nasal bridge 121 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000340) Sloping forehead 86 / 7739
5
 (HPO:0000453) Choanal atresia 76 / 7739
6
 (HPO:0000518) Cataract 454 / 7739
7
 (HPO:0001257) Spasticity 251 / 7739
8
 (HPO:0001276) Hypertonia 317 / 7739
9
 (HPO:0011344) Severe global developmental delay 46 / 7739
10
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
11
 (HPO:0001371) Flexion contracture 220 / 7739
12
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
13
 (HPO:0001518) Small for gestational age 107 / 7739
14
 (HPO:0001272) Cerebellar atrophy 197 / 7739
15
 (OMIM) Poor dendritic maturation 1 / 7739
16
 (OMIM) Prominent helices 1 / 7739
17
 (OMIM) Little polarity in remaining neurons 1 / 7739
18
 (HPO:0003577) Congenital onset 133 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Cell degeneration 1 / 7739
21
 (OMIM) Loss of neurons affecting all cortical layers 1 / 7739
22
 (OMIM) Absence of the corpus callosum 5 / 7739
23
 (OMIM) Microcephaly, severe 4 / 7739
24
 (HPO:0012448) Delayed myelination 51 / 7739
25
 (HPO:0002171) Gliosis 48 / 7739
26
 (OMIM) Low sloping forehead 2 / 7739
27
 (OMIM) Low birth length 2 / 7739
28
 (OMIM) Abnormal cell orientation 1 / 7739
29
 (OMIM) Poor somatic growth 1 / 7739
30
 (HPO:0002059) Cerebral atrophy 171 / 7739
31
 (OMIM) Cerebral atrophy, severe 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss ...
Clinical Description OMIM Yang et al. (2012) reported a large consanguineous Arab Israeli family in which 8 individuals had severe primary microcephaly (-9 SD) resulting in death by age 1 year in all except 1 case. Brain MRI showed extreme microcephaly ...
Molecular genetics OMIM In affected members of an Arab Israeli family with MCPH10, Yang et al. (2012) identified a homozygous mutation in the ZNF335 gene (610827.0001). The mutation was identified by linkage analysis followed by candidate gene sequencing. The mutation caused ...